Variant report

Variant	rs73487670
Chromosome Location	chr7:140247497-140247498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58620263	0.91[AFR][1000 genomes]
rs73483934	1.00[AFR][1000 genomes]
rs73483942	1.00[AFR][1000 genomes]
rs73485799	0.80[AFR][1000 genomes]
rs73487622	0.85[AFR][1000 genomes]
rs73491542	1.00[AFR][1000 genomes]
rs73491556	1.00[AFR][1000 genomes]
rs73491570	1.00[AFR][1000 genomes]
rs73491576	1.00[AFR][1000 genomes]
rs73491591	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv1802929	chr7:140212566-140285491	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140226200-140262800	Weak transcription	Gastric	stomach
2	chr7:140241400-140257800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:140241800-140251200	Weak transcription	Esophagus	oesophagus
4	chr7:140241800-140257800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:140242000-140268000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:140242200-140256400	Weak transcription	Fetal Brain Male	brain
7	chr7:140242400-140251200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:140242400-140263800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:140242800-140247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:140242800-140251600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:140242800-140252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:140242800-140253400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr7:140242800-140257800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:140242800-140258800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:140242800-140266800	Weak transcription	Lung	lung
16	chr7:140242800-140266800	Weak transcription	Right Atrium	heart
17	chr7:140243000-140251400	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:140243000-140251600	Strong transcription	Fetal Stomach	stomach
19	chr7:140243000-140252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:140243000-140262600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:140243200-140252200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:140243200-140253000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:140243400-140248000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:140243400-140249600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:140243400-140251200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:140243400-140251400	Strong transcription	Fetal Muscle Leg	muscle
27	chr7:140244200-140249000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:140244400-140247800	Strong transcription	NHDF-Ad	bronchial
29	chr7:140244800-140266800	Weak transcription	Liver	Liver
30	chr7:140245000-140251200	Weak transcription	HepG2	liver
31	chr7:140245200-140251800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:140245400-140266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:140245800-140257000	Weak transcription	Brain Anterior Caudate	brain
34	chr7:140245800-140257600	Weak transcription	Brain Angular Gyrus	brain
35	chr7:140245800-140257600	Weak transcription	Brain Germinal Matrix	brain
36	chr7:140246000-140251800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:140246000-140258800	Weak transcription	Brain Substantia Nigra	brain
38	chr7:140246200-140253200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:140246800-140247800	Strong transcription	Fetal Kidney	kidney
40	chr7:140246800-140251200	Weak transcription	NHLF	lung
41	chr7:140246800-140251600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:140246800-140251600	Weak transcription	Right Ventricle	heart
43	chr7:140246800-140257800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:140246800-140257800	Weak transcription	Placenta	Placenta
45	chr7:140247000-140248200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr7:140247000-140251200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:140247000-140251200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:140247000-140251200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:140247000-140251400	Weak transcription	Fetal Brain Female	brain
50	chr7:140247000-140251600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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